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These include cardiovascular, respiratory (other than lung hypoplasia), gastrointestinal, renal, and genital malformations. We report a case of complete bilateral agenesis of the diaphragm associated with a horseshoe kidney and an imperforate anus. These additional malformations have not previously been reported in association with complete bilateral agenesis of the diaphragm. We also present a review of previous cases of total diaphragm agenesis published in the English language and provide some insights about pathogenesis.<\/jats:p>","DOI":"10.1177\/1093526616680906","type":"journal-article","created":{"date-parts":[[2017,7,18]],"date-time":"2017-07-18T06:37:22Z","timestamp":1500359842000},"page":"66-71","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Complete Bilateral Agenesis of the Diaphragm"],"prefix":"10.1177","volume":"20","author":[{"given":"Mudher","family":"Al-Adnani","sequence":"first","affiliation":[{"name":"Department of Cellular Pathology, Guy\u2019s and St Thomas\u2019 Hospital, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Marnerides","sequence":"additional","affiliation":[{"name":"Department of Cellular Pathology, Guy\u2019s and St Thomas\u2019 Hospital, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2017,1,25]]},"reference":[{"key":"bibr1-1093526616680906","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2014-306174"},{"key":"bibr2-1093526616680906","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.4.253"},{"key":"bibr3-1093526616680906","doi-asserted-by":"publisher","DOI":"10.1053\/jpsu.2003.50092"},{"key":"bibr4-1093526616680906","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291778"},{"key":"bibr5-1093526616680906","doi-asserted-by":"publisher","DOI":"10.1136\/thx.36.2.157"},{"key":"bibr6-1093526616680906","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210113"},{"key":"bibr7-1093526616680906","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-994549"},{"key":"bibr8-1093526616680906","doi-asserted-by":"publisher","DOI":"10.1016\/0022-3468(95)90599-5"},{"key":"bibr9-1093526616680906","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050666"},{"key":"bibr10-1093526616680906","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(97)90212-8"},{"key":"bibr11-1093526616680906","doi-asserted-by":"publisher","DOI":"10.1016\/S1726-4901(09)70045-0"},{"key":"bibr12-1093526616680906","doi-asserted-by":"publisher","DOI":"10.3109\/15513815.2015.1042605"},{"key":"bibr13-1093526616680906","first-page":"695","volume-title":"Potter\u2019s Pathology of the Fetus, Infant and Child","author":"Siebert JR","year":"2007","edition":"2"},{"key":"bibr14-1093526616680906","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30126"},{"key":"bibr15-1093526616680906","doi-asserted-by":"publisher","DOI":"10.2350\/11-05-1041-OA.1"},{"key":"bibr16-1093526616680906","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.10039"},{"key":"bibr17-1093526616680906","doi-asserted-by":"publisher","DOI":"10.1002\/cne.10503"},{"key":"bibr18-1093526616680906","doi-asserted-by":"publisher","DOI":"10.1111\/febs.12274"},{"key":"bibr19-1093526616680906","doi-asserted-by":"publisher","DOI":"10.1053\/j.semperi.2005.04.003"},{"key":"bibr20-1093526616680906","doi-asserted-by":"publisher","DOI":"10.1186\/2045-3701-2-11"}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1093526616680906","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1093526616680906","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1093526616680906","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T04:03:02Z","timestamp":1777694582000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/1093526616680906"}},"subtitle":["A Case Report and Literature Review"],"short-title":[],"issued":{"date-parts":[[2017,1,25]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,2]]}},"alternative-id":["10.1177\/1093526616680906"],"URL":"https:\/\/doi.org\/10.1177\/1093526616680906","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1,25]]}}}